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Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Yuting LouXinglei ShiGuofa SuYufan GuoLiuyan GaoYe WangPu MiaoJianhua Feng
Published in: Molecular genetics & genomic medicine (2024)
The variant was predicted to be damaging to correct the translation of the CNKRS2 protein and was classified as likely pathogenic according to the ACMG guidelines.
Keyphrases
  • clinical practice
  • protein protein
  • small molecule